Orofaciodigital syndrome 5

Other Names: OFD5; Oral-facial-digital syndrome 5; Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; OFD syndrome 5; Orofaciodigital syndrome V; Oral facial digital syndrome type 5; Oral facial digital syndrome 5; OFDS 5

Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

Epidemiology

Less than 20 patients (predominantly of Indian origin) have been reported so far.

Cause

Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.

NIH genetic and rare disease info

• NIH info on Orofaciodigital syndrome 5

Orofaciodigital syndrome 5 is a rare disease.

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